title: Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy.
abstract: METHODS
  A fetus with rhombencephalosynapsis and prenatally diagnosed tetrasomy 9p is reported. Chromosomal analysis from amniocyte culture revealed non-mosaic supernumerary chromosome identified as isochromosome 9p (9p24-->q13::q13-->p24). Ultrasound scan revealed intrauterine growth retardation, renal anomalies, cardiac anomalies, ventriculomegaly, and agenesis of cerebellar vermis with fusion of the cerebellar hemispheres.
  
  
  CONCLUSIONS
  Although most cases of cerebellar vermis agenesis in tetrasomy 9p are described with cystic malformation such as Dandy-Walker anomaly, our case indicates that this chromosomal disorder should be taken into account in fetuses with the development of cystic and non-cystic malformations of cerebellar vermis and posterior fossa.
authors.affiliation: Department of Obstetrics and Gynecology, University Gabriele d'Annunzio, d'Annunzio Foundation, Chieti, Italy. elenadivera@yahoo.it
authors.forename: Elena
authors.initials: E
authors.lastname: di Vera
authors.forename: Marco
authors.initials: M
authors.lastname: Liberati
authors.forename: Claudio
authors.initials: C
authors.lastname: Celentano
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Calabrese
authors.forename: Paolo Emilio
authors.initials: PE
authors.lastname: Guanciali-Franchi
authors.forename: Elisena
authors.initials: E
authors.lastname: Morizio
authors.forename: Sigfried
authors.initials: S
authors.lastname: Rotmensch
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations; D002899:Chromosomes, Human, Pair 9; D017809:Fatal Outcome; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D006801:Humans; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D012249:Rhombencephalon / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000196:embryology; D014463:Ultrasonography